Article

Knock-in Mouse Model of Hereditary Myopathy with Early Respiratory Failure Carrying the Titin Variant Corresponding to Human p.N31786K

2026-02-23

Abstract excerpt

<title>Abstract</title> <p> Hereditary Myopathy with Early Respiratory Failure (HMERF) is a progressive titinopathy caused by dominant missense mutations in the A-band region of <italic>TTN</italic> , a domain essential for sarcomere stability. Patients suffering with HMERF manifest muscle weakness, early respiratory involvement, and reduced life expectancy, yet no effective therapies currently exist. A major...

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Literature Corpus work: eaa0c3a0-1585-5a11-bcdf-159468f47f30
DOI: 10.21203/rs.3.rs-8910535/v1

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